ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.616G>A (p.Ala206Thr)

dbSNP: rs141093002
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000647466 SCV000769262 uncertain significance Neuroblastoma, susceptibility to, 3 2024-12-18 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 206 of the ALK protein (p.Ala206Thr). This variant is present in population databases (rs141093002, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ALK-related conditions. ClinVar contains an entry for this variant (Variation ID: 538257). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV002255491 SCV002528533 likely benign Hereditary cancer-predisposing syndrome 2021-05-20 criteria provided, single submitter curation
Ambry Genetics RCV002255491 SCV003716947 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-29 criteria provided, single submitter clinical testing The p.A206T variant (also known as c.616G>A), located in coding exon 1 of the ALK gene, results from a G to A substitution at nucleotide position 616. The alanine at codon 206 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003488760 SCV004238573 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003488760 SCV005187604 uncertain significance not provided criteria provided, single submitter not provided

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